Canonical Allele Identifier: CA2655248242

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19132215-G-GAGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132215_19132216insAGGAT , CM000684.2:g.19132215_19132216insAGGAT	GRCh38
NC_000022.10:g.19119728_19119729insAGGAT , CM000684.1:g.19119728_19119729insAGGAT	GRCh37
NC_000022.9:g.17499728_17499729insAGGAT	NCBI36
NG_008320.1:g.17462_17463insATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1980_*1981insATCCT (ESS2) MANE Select	ENSP00000252137.6:n.*1980_*1981insATCCT
ENST00000399635.4:c.816_817insAGGAT (TSSK2) MANE Select	ENSP00000382544.2:p.Gln273ArgfsTer?
ENST00000252137.10:c.*1980_*1981insATCCT (ESS2)	ENSP00000252137.6:n.*1980_*1981insATCCT
ENST00000399635.3:c.816_817insAGGAT (TSSK2)	ENSP00000382544.2:p.Gln273ArgfsTer?
NM_022719.2:c.*1980_*1981insATCCT (ESS2)	NP_073210.1:n.*1980_*1981insATCCT
NM_053006.4:c.816_817insAGGAT (TSSK2)	NP_443732.3:p.Gln273ArgfsTer?
XM_005261282.3:c.*1980_*1981insATCCT (ESS2)	XP_005261339.1:n.*1980_*1981insATCCT
XM_006724329.2:c.*1980_*1981insATCCT (ESS2)	XP_006724392.1:n.*1980_*1981insATCCT
XM_006724330.2:c.*1980_*1981insATCCT (ESS2)	XP_006724393.1:n.*1980_*1981insATCCT
XM_006724331.2:c.*1980_*1981insATCCT (ESS2)	XP_006724394.1:n.*1980_*1981insATCCT
XR_937926.1:n.3369_3370insATCCT (ESS2)
NR_134304.1:n.3525_3526insATCCT (ESS2)
NM_022719.3:c.*1980_*1981insATCCT (ESS2) MANE Select	NP_073210.1:n.*1980_*1981insATCCT
NM_053006.5:c.816_817insAGGAT (TSSK2) MANE Select	NP_443732.3:p.Gln273ArgfsTer?
NR_134304.2:n.3499_3500insATCCT (ESS2)